Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease

Autor:	M A, Martín, J C, Rubio, A, García, M A, Fernández, Y, Campos, M, Krawczak, D N, Cooper, J, Arenas
Rok vydání:	2001
Předmět:	Adult Male Heterozygote Base Sequence Phosphorylases DNA Mutational Analysis Molecular Sequence Data Polymerase Chain Reaction Mutagenesis Insertional Mutation Glycogen Storage Disease Type V Humans Gene Deletion Polymorphism Restriction Fragment Length
Zdroj:	Clinical genetics. 59(1)
ISSN:	0009-9163
Popis:	We report two siblings with McArdle's disease who are both compound heterozygotes for two non-identical frameshift mutations in the PYGM gene; a previously reported 753 delA in exon 18 and a novel 387 insA/del 8 bp in exon 10. The novel mutation is predicted to result in premature termination of translation 33 amino acids downstream of the site of mutation, potentially encoding a severely truncated protein of 419 amino acids instead of 841 amino acids. The complete lack of myophosphorylase activity observed in muscle derived from one sibling suggests that this mutation has deleterious functional consequences. The underlying mechanism of mutagenesis may have been slipped mispairing mediated by the formation of a Moebius loop-like secondary intermediate.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::a39a45924487b886bd10f546c2865ffb https://pubmed.ncbi.nlm.nih.gov/11168025 Zobrazit plný text záznamu Plný text